Associated Papers
The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.
Rautiainen N et al.
American Journal of Medical Genetics. Part A, 2026
Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children.
Gorman MP et al.
Pediatric Neurology, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Computational Exploration of Single-Nucleotide Polymorphisms in the Human hRAS Gene: Implications and Insights.
Dakshitha S et al.
Cureus, 2024
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Frey T et al.
American Journal of Medical Genetics. Part A, 2023
Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds E et al.
British Journal of Cancer, 2023
In Silico Analysis of nsSNPs of Human KRAS Gene and Protein Modeling Using Bioinformatic Tools.
Xu D et al.
Acs Omega, 2023
Predicting the effects of rare genetic variants on oncogenic signaling pathways: A computational analysis of HRAS protein function.
Ali S et al.
Frontiers in Chemistry, 2023
Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape.
Ratnasinghe BD et al.
Computational and Structural Biotechnology Journal, 2023
Predicting Deleterious Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) of HRAS Gene and In Silico Evaluation of Their Structural and Functional Consequences towards Diagnosis and Prognosis of Cancer.
Chai CY et al.
Biology, 2022
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
Lindsey-Temple S et al.
European Journal of Human Genetics : Ejhg, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Multidisciplinary Management of Costello Syndrome: Current Perspectives.
Leoni C et al.
Journal of Multidisciplinary Healthcare, 2022
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
Tripathi S et al.
Bioinformatics (oxford, England), 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
Vuralli D et al.
Molecular Syndromology, 2020
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2019
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
Gripp KW et al.
Clinical Genetics, 2017
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
Pelc M et al.
Clinical Dysmorphology, 2017
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
Chen Y et al.
Genes, Chromosomes & Cancer, 2006